Variant report

Variant	rs62344976
Chromosome Location	chr5:14331673-14331674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14331492..14334108-chr5:14338473..14341429,3	MCF-7	breast:
2	chr5:14326133..14328389-chr5:14331422..14333963,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10866506	0.81[EUR][1000 genomes]
rs10866507	0.81[EUR][1000 genomes]
rs11133785	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11959397	0.85[EUR][1000 genomes]
rs12109880	0.85[EUR][1000 genomes]
rs12110267	0.85[EUR][1000 genomes]
rs16903375	0.83[EUR][1000 genomes]
rs16903389	0.87[EUR][1000 genomes]
rs16903421	0.85[EUR][1000 genomes]
rs16903423	0.85[EUR][1000 genomes]
rs16903428	0.85[EUR][1000 genomes]
rs16903434	0.81[EUR][1000 genomes]
rs1697168	0.83[EUR][1000 genomes]
rs2463803	0.85[EUR][1000 genomes]
rs57017859	0.85[EUR][1000 genomes]
rs58383010	0.87[EUR][1000 genomes]
rs59405120	0.81[EUR][1000 genomes]
rs60738268	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60768136	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60892841	0.85[EUR][1000 genomes]
rs61059406	0.85[EUR][1000 genomes]
rs61469842	0.81[EUR][1000 genomes]
rs62344973	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62344979	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62344981	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62344983	0.85[EUR][1000 genomes]
rs62345009	0.81[EUR][1000 genomes]
rs62345012	0.81[EUR][1000 genomes]
rs62346588	0.83[EUR][1000 genomes]
rs62346590	0.87[EUR][1000 genomes]
rs66554336	0.85[EUR][1000 genomes]
rs6879505	0.87[EUR][1000 genomes]
rs6887831	0.83[EUR][1000 genomes]
rs697558	0.83[EUR][1000 genomes]
rs697559	0.83[EUR][1000 genomes]
rs7706484	0.81[EUR][1000 genomes]
rs7710935	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7731443	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7732548	0.83[EUR][1000 genomes]
rs773764	0.83[EUR][1000 genomes]
rs773765	0.83[EUR][1000 genomes]
rs773766	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
3	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:14313800-14337600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
6	chr5:14314600-14338200	Strong transcription	HSMM	muscle
7	chr5:14314800-14342200	Strong transcription	Osteobl	bone
8	chr5:14316200-14332600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:14318000-14333000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:14318000-14333000	Weak transcription	Thymus	Thymus
11	chr5:14318000-14336600	Weak transcription	Fetal Thymus	thymus
12	chr5:14319200-14349400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:14319400-14333800	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:14321600-14334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:14321600-14336400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:14321600-14336600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:14321600-14340200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:14321800-14332400	Weak transcription	Pancreas	Pancrea
19	chr5:14321800-14333000	Weak transcription	Lung	lung
20	chr5:14321800-14336000	Weak transcription	Colonic Mucosa	Colon
21	chr5:14321800-14336600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:14322200-14334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:14323000-14336800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:14323200-14332800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:14323400-14336600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:14323600-14342400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:14323800-14333200	Weak transcription	Spleen	Spleen
28	chr5:14323800-14339400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:14325200-14333000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:14326400-14332200	Weak transcription	Brain Angular Gyrus	brain
31	chr5:14326400-14332600	Weak transcription	Brain Germinal Matrix	brain
32	chr5:14326400-14333000	Weak transcription	Psoas Muscle	Psoas
33	chr5:14326600-14336800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:14326600-14342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:14326800-14332400	Weak transcription	Right Ventricle	heart
36	chr5:14326800-14333000	Weak transcription	Esophagus	oesophagus
37	chr5:14326800-14333800	Weak transcription	Gastric	stomach
38	chr5:14326800-14334000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:14326800-14346400	Weak transcription	Fetal Kidney	kidney
40	chr5:14328000-14338800	Strong transcription	NHLF	lung
41	chr5:14328000-14339200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:14328000-14344400	Strong transcription	HMEC	breast
43	chr5:14328200-14334200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:14328200-14334400	Strong transcription	A549	lung
45	chr5:14328200-14335600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr5:14328200-14338800	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr5:14328200-14342200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:14328400-14332400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:14328400-14338200	Strong transcription	NH-A	brain
50	chr5:14328600-14332000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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